儿童神经肌肉病的疾病修正治疗  

Disease modifying therapy of pediatric neuromuscular diseases

作　　者：毛姗姗[1] 黄思亦 Mao Shanshan;Huang Siyi(Department of Neurology,the Children′s Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)

机构地区：[1]浙江大学医学院附属儿童医院神经内科,国家儿童健康与疾病临床医学研究中心,杭州310052

出　　处：《中国小儿急救医学》2023年第6期405-410,共6页Chinese Pediatric Emergency Medicine

摘　　要：神经肌肉病(NMDs)是一类定位于运动单位通路各部位,以肌无力为主要表现的神经系统疾病,遗传性因素为重要致病原因,大部分儿童期起病。近年来,随着精准医学的快速发展,NMDs的药物治疗取得极大进展,儿童NMDs进入疾病修正治疗时代。反义寡核苷酸、基因治疗、小分子化合物、单克隆抗体等靶向病因与发病机制的疾病修正治疗药物逐渐进入临床应用,并有多种在研新药不断更新研究数据,未来有望实现儿童NMDs的治疗新突破。Neuromuscular diseases(NMDs)are a group of hereditary,commonly childhood-onset neurological disorders affecting various components of motor unit,which are often characterized by reduced muscle strength.With the rapid development of precision medicine,great progress has been made in the pharmacological treatment of NMDs,and pediatric NMDs has also entered the era of disease modifying therapy.Antisense oligonucleotides,gene therapy,small molecule compounds,monoclonal antibodies and other disease modifying therapy drugs targeting the cause and pathogenesis of the diseases are gradually applied in clinical practice.What′s more,a variety of potential new drugs and therapeutic biological products are in continuous development.Hopefully,new breakthroughs are expected to be achieved in the field of pediatric NMDs treatment in the near future.

关 键 词：神经肌肉病 疾病修正治疗 儿童 

分 类 号：R746[医药卫生—神经病学与精神病学]